MCID: MCL035
MIFTS: 16

Macular Dystrophy, Retinal, 2

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Retinal, 2

MalaCards integrated aliases for Macular Dystrophy, Retinal, 2:

Name: Macular Dystrophy, Retinal, 2 57 13
Mcdr2 57 59 75
Dystrophy, Macular, Retinal, Type 2 40
Retinal Macular Dystrophy Type 2 59
Retinal Macular Dystrophy 2 75

Characteristics:

Orphanet epidemiological data:

59
retinal macular dystrophy type 2
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
macular dystrophy, retinal, 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 608051
Orphanet 59 ORPHA319640
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 74 C0339512
MedGen 42 C0339512
MeSH 44 D008268
SNOMED-CT via HPO 69 263681008 38950008 13164000

Summaries for Macular Dystrophy, Retinal, 2

UniProtKB/Swiss-Prot : 75 Retinal macular dystrophy 2: A bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula.

MalaCards based summary : Macular Dystrophy, Retinal, 2, is also known as mcdr2. An important gene associated with Macular Dystrophy, Retinal, 2 is PROM1 (Prominin 1). Affiliated tissues include eye, and related phenotypes are central scotoma and dyschromatopsia

Description from OMIM: 608051

Related Diseases for Macular Dystrophy, Retinal, 2

Symptoms & Phenotypes for Macular Dystrophy, Retinal, 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
bilateral macular retinal pigment epithelial mottling
bilateral macular retinal pigment epithelial atrophy
bilateral red-speckled retinal pigment epithelium
ring of moderately increased perifoveal autofluorescence
dyschromatopsia
more

Clinical features from OMIM:

608051

Human phenotypes related to Macular Dystrophy, Retinal, 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 central scotoma 32 HP:0000603
2 dyschromatopsia 32 HP:0007641
3 reduced visual acuity 32 HP:0007663
4 retinal pigment epithelial atrophy 32 HP:0007722
5 macular dystrophy 32 HP:0007754
6 granular macular appearance 32 HP:0007793
7 perifoveal ring of hyperautofluorescence 32 HP:0030629

Drugs & Therapeutics for Macular Dystrophy, Retinal, 2

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy, Retinal, 2

Genetic Tests for Macular Dystrophy, Retinal, 2

Anatomical Context for Macular Dystrophy, Retinal, 2

MalaCards organs/tissues related to Macular Dystrophy, Retinal, 2:

41
Eye

Publications for Macular Dystrophy, Retinal, 2

Variations for Macular Dystrophy, Retinal, 2

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Retinal, 2:

75
# Symbol AA change Variation ID SNP ID
1 PROM1 p.Arg373Cys VAR_057961 rs137853006

ClinVar genetic disease variations for Macular Dystrophy, Retinal, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh37 Chromosome 4, 16014922: 16014922
2 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh38 Chromosome 4, 16013299: 16013299

Expression for Macular Dystrophy, Retinal, 2

Search GEO for disease gene expression data for Macular Dystrophy, Retinal, 2.

Pathways for Macular Dystrophy, Retinal, 2

GO Terms for Macular Dystrophy, Retinal, 2

Sources for Macular Dystrophy, Retinal, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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